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Article

The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment.

Journal of the neurological sciences - 15 May 2010

Ronchi Dario, Virgilio Roberta, Bordoni Andreina, Fassone Elisa, Sciacco Monica, Ciscato Patrizia, Moggio Maurizio, Govoni Alessandra, Corti Stefania, Bresolin Nereo, Comi Giacomo P

Abstract excerpt

Mitochondrial disorders are often associated with mutations in mitochondrial tRNA. Independent observation of the same molecular defect in unrelated subjects is a generally required proof of pathogenicity. A sporadic case of chronic external ophthalmoplegia (cPEO) with ragged red fibres (RRFs) has been previously related to an m.12316G>A substitution in tRNA(Leu(CUN)). Sequencing muscle-derived mtDNA, we found...

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PMID: 20163808
DOI: 10.1016/j.jns.2010.01.026

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